A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048456



Internal ID19137675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48319210..48435916hg38UCSC Ensembl
Innerchr14:48788413..48905119hg19UCSC Ensembl
Innerchr14:47858163..47974869hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38116707
hg19116707
hg18116707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1918n100
Supporting Variantsnssv3531000, nssv3531001, nssv3530998, nssv3530999, nssv3713488
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048456
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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